A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

Genetics of the Dominant Ataxias

(2012) Dineke Verbeek et al.   SEMINARS IN NEUROLOGY

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

(2010) Georgy Bakalkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The unfolded protein response in familial amyotrophic lateral sclerosis

(2010) L. Wang et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Chaperone networks: Tipping the balance in protein folding diseases

(2010) Cindy Voisine et al.   NEUROBIOLOGY OF DISEASE

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

Emerging pathogenic pathways in the spinocerebellar ataxias

(2009) Kerri M Carlson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco–Sjögren syndrome

(2009) Lihong Zhao et al.   HUMAN MOLECULAR GENETICS

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

The Spinocerebellar Ataxias

(2009) Henry L Paulson   JOURNAL OF NEURO-OPHTHALMOLOGY

Molecular pathogenesis of spinocerebellar ataxia type 1 disease

(2009) Seongman Kang et al.   MOLECULES AND CELLS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Collapse of proteostasis represents an early molecular event in Caenorhabditis elegans aging

(2009) A. Ben-Zvi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Destabilizing Protein Polymorphisms in the Genetic Background Direct Phenotypic Expression of Mutant SOD1 Toxicity

(2009) Tali Gidalevitz et al.   PLoS Genetics

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG

(2008) Shiroh Miura et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE